Life Science and Medical News from Around the Globe
Two Life-Saving Discoveries Help Four Generations of Women in One Family Deal with Familial Hypercholesterolemia; World-Leading Cholesterol Research at UT Southwestern Medical Center Led to Development of Game-Changing Statins, Then PCSK9 Inhibitors
Her great-grandmother volunteered in ground-breaking cholesterol research at the University of Texas (UT) Southwestern Medical Center. Now, 9-year-old Zoe Allen is benefiting from that decision. Four generations of women, who all have the same hereditary condition – familial hypercholesterolemia – form a story interwoven with the discovery of new treatments that have benefited millions of people. In 1987, Kathryn Geddie was a 33-year-old mother of two. At her annual physical, she told her doctor that her mother had extremely high cholesterol levels at a young age. After testing, Kathryn learned she had the same condition and began taking statins. “My mother is the reason that I was tested. My physician began treating me in 1987 because my cholesterol was in the upper 300s,” remembered Kathryn, now 64. Kathryn’s immediate concern drove her to have her then 11-year-old daughter, Shanon, tested. Despite her young age, Shanon’s cholesterol was soaring at 400 mg/dL. The normal range is less than 200. Little did the family know then that their shared struggle with high cholesterol would lead them on a road to reverse the disease – one paved by the generation that came before them. (Photo here shows Kathryn, Shannon, & Zoe--See additional, larger pics at end of this article). In the early 1980s, Kathryn’s mother, Estelle, took part in leading-edge research at UT Southwestern Medical Center where molecular genetics professors Drs. Michael Brown and Joseph Goldstein were seeking answers to how people develop high cholesterol. These scientists identified the basic mechanism of cholesterol metabolism, which led to their being awarded the 1985 Nobel Prize in Physiology or Medicine. Soon after this discovery, statins were developed to lower cholesterol and help prevent heart disease. Thousands of adult patients benefited. However, there were unknown risks for children.